COL27A1
Description
The COL27A1 gene provides instructions for making collagen type XXVII, a protein crucial for the structure and integrity of various tissues, including skin, cartilage, and blood vessels. This collagen helps in anchoring and organizing other collagen fibers, contributing to the overall strength and resilience of these tissues. Mutations in the COL27A1 gene can disrupt collagen type XXVII production, leading to a range of health complications.
Associated Diseases
- Ehlers-Danlos syndrome (EDS): Several types of EDS, particularly EDS type VIIB, are linked to mutations in COL27A1. These disorders involve connective tissue abnormalities, causing joint hypermobility, skin fragility, and vascular problems.
- Dystrophic epidermolysis bullosa (DEB): This rare genetic skin condition leads to fragile skin prone to blistering and scarring. Some forms of DEB are associated with COL27A1 mutations, impacting collagen type XXVII's role in skin integrity.
- Other connective tissue disorders: Mutations in COL27A1 have been implicated in other disorders affecting connective tissue, including some forms of osteogenesis imperfecta and arthrochalasia, highlighting its broader role in maintaining tissue integrity.
Did you know?
Collagen type XXVII is unique in its structure, featuring a long, extended chain with multiple triple-helix domains. This unusual structure allows it to interact with other collagen types and play a vital role in tissue organization.
